Canonical Allele Identifier: CA347485030

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779076G>T (hg19) ; chr2:g.85551953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551953G>T , CM000664.2:g.85551953G>T	GRCh38
NC_000002.11:g.85779076G>T , CM000664.1:g.85779076G>T	GRCh37
NC_000002.10:g.85632587G>T	NCBI36
NG_011811.2:g.14582C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000473665.2:n.5946C>A
ENST00000482662.2:n.4353C>A
ENST00000685865.1:n.2305C>A
ENST00000687250.1:n.2005C>A
ENST00000687995.1:n.1820C>A
ENST00000688205.1:c.*1061C>A	ENSP00000509673.1:n.*1061C>A
ENST00000688788.1:n.1707C>A
ENST00000689276.1:c.1399C>A	ENSP00000510012.1:p.Gln467Lys
ENST00000689576.1:c.*87C>A	ENSP00000508712.1:n.*87C>A
ENST00000690108.1:c.*1124C>A	ENSP00000510617.1:n.*1124C>A
ENST00000690468.1:c.*20C>A	ENSP00000509078.1:n.*20C>A
ENST00000690595.1:c.793C>A	ENSP00000508979.1:p.Gln265Lys
ENST00000691348.1:c.*20C>A	ENSP00000509369.1:n.*20C>A
ENST00000691410.1:c.*1045C>A	ENSP00000508479.1:n.*1045C>A
ENST00000693287.1:c.784C>A	ENSP00000510264.1:p.Gln262Lys
ENST00000693681.1:c.781C>A	ENSP00000510789.1:p.Gln261Lys
ENST00000233838.9:c.1468C>A MANE Select	ENSP00000233838.3:p.Gln490Lys
ENST00000233838.8:c.1468C>A	ENSP00000233838.3:p.Gln490Lys
ENST00000430215.7:c.1297C>A	ENSP00000408045.3:p.Gln433Lys
ENST00000465637.5:n.179-3949C>A
NM_000821.5:c.1468C>A	NP_000812.2:p.Gln490Lys
NM_000821.6:c.1468C>A	NP_000812.2:p.Gln490Lys
NM_001142269.2:c.1297C>A	NP_001135741.1:p.Gln433Lys
NM_001142269.3:c.1297C>A	NP_001135741.1:p.Gln433Lys
XM_005264259.3:c.1468C>A	XP_005264316.1:p.Gln490Lys
XM_011532764.1:c.646C>A	XP_011531066.1:p.Gln216Lys
XM_011532765.1:c.646C>A	XP_011531067.1:p.Gln216Lys
XR_939677.1:n.1381C>A
XM_005264259.5:c.1468C>A	XP_005264316.1:p.Gln490Lys
XM_011532764.3:c.646C>A	XP_011531066.1:p.Gln216Lys
XM_011532765.3:c.646C>A	XP_011531067.1:p.Gln216Lys
XM_017003803.2:c.1297C>A	XP_016859292.1:p.Gln433Lys
XR_001738703.2:n.1381C>A
NM_000821.7:c.1468C>A MANE Select	NP_000812.2:p.Gln490Lys
NM_001142269.4:c.1297C>A	NP_001135741.1:p.Gln433Lys